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Published: Tue, August 15, 2017
World | By Lorena Waters

Ask an Expert: My grandson has developmental delays

Ask an Expert: My grandson has developmental delays

Pelizaeus-Merzbacher disease (PMD) is a genetic disorder of the central nervous system (the brain and spinal cord) in which the covering of the nerves - the myelin sheath - Is not formed properly. The myelin sheath is made up of fat and protein which acts as an insulator on the nerves (axons) in the brain and spinal cord.

The disease is caused by changes (mutations) in a gene called proteolipid protein 1 (PLP1). The PLP1 gene is on the X chromosome so most affected individuals are evils who inherit the abnormal gene from their mothers.

Pelizaeus-Merzbacher disease usually begins during infancy. Clinical features include nystagmus (involuntary movements of the eyes), lack of muscle tone (hypotonia), with tremors of the developing head as well as spasticity. There are delays in motor and intellectual development. Some babies can have stridor (labored and noisy breathing).

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Valproic acid in pregnancy: How much are we endangering the embryo and fetus?
Women exposed to valproate in pregnancy should be given periconceptional folic acid and followed up at high risk pregnancy clinic. The specific inhibition by VPA of histone deacetylase and changes in gene expression may explain the teratogenicity of this drug.

Because myelination of the nerves in the CNS happens over the first two years of life, problems may not be seen in an MRI that is done in a few months of age, but can be seen on MRI between one And two years of age.

However, I can not make a diagnosis for your grandson as there are other causes for the problems you describe. Your grandson's doctors are the appropriate people to make a diagnosis for him and his parents. If PMD is diagnosed, I would recommend that your grandson's parents talk to a geneticist as this is a hereditary disorder which would be important for them to discuss. They can locate a genetics center near them at the National Society of Genetic Counselors' Resource Center website below.

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